Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507057T>G , CM000674.2:g.14507057T>G | GRCh38 |
| NC_000012.11:g.14659991T>G , CM000674.1:g.14659991T>G | GRCh37 |
| NC_000012.10:g.14551258T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1248A>C MANE Select | ENSP00000240617.5:p.Pro416= | |
| ENST00000240617.9:c.1248A>C | ENSP00000240617.5:p.Pro416= | |
| NM_024829.5:c.1248A>C | NP_079105.4:p.Pro416= | |
| NM_024829.6:c.1248A>C MANE Select | NP_079105.4:p.Pro416= |